Allele Registry

Canonical Allele Identifier: PA1139748122

Gene: JUP HGNC NCBI

ClinVar Variation Id: 966967

ClinVar RCV Id: RCV001241769

ClinVar Variation Id: 1468273

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Met7Ile	CA8565602 NM_021991.4:c.21G>C CA399507332 NM_021991.4:c.21G>T CA399507335 NM_021991.4:c.21G>A